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A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… cues, cells send and receive signals through biological pathways. The molecules that make up biological pathways … regulation of genes and in the transmission of signals. Metabolic pathways make possible the chemical reactions that occur in our bodies. An example of a metabolic pathway is the process by which cells break down …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… in several respects. It exposes trainees to rare metabolic disorders that might not be seen in a more typical … skills in the care and clinical research of patients with metabolic disorders. The residency program includes many … sessions, courses, seminars, biochemical journal club and metabolic continuity clinic. The course Inborn Errors in …
News Release
The Genetics and Public Policy and Genetics and Education Fellowships provide a pathway for scientists to pursue careers in science policy or education.
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI. She earned her medical … pathophysiology and develop new therapies for genetic and metabolic disorders. During her training as a clinical and … metabolism, and the discovery of new genes in these pathways, including ACSF3 and HCFC1 . With support from an …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… gain broad experience in clinical and molecular genetics, metabolic diseases and cytogenetics. M.D. candidates must … Genetic Disorders, Clinical Genetics, Molecular Genetics, Metabolic Diseases, Cytogenetics … Three-year residency …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… diagnosed anomalies and the impact of genetic and metabolic disease on healthy and high risk pregnancies. The … adult and pediatric, including cytogenetic, molecular, and metabolic evaluations, and extensive exposure to … Etiologies, Prenatally Diagnosed Anomalies, Genetic And Metabolic Disease, Healthy Pregnancies, High-risk …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… treatment Trial in Patients with Alkaptonuria Biochemical/Metabolic and Therapeutics March 14, 2024, 4:15 – 5:45 p.m … for Cerebral Creatine Deficiency Syndromes Biochemical/Metabolic and Therapeutics … Poster Presentations  No. Title … Where Epigenetics, Cancer and Hypoxia meet P134 Neuronal Pathways by Differential Tractography Correlate with Clinical …
Educational Resources
Mitochondrial DNA is the small circular chromosome found inside mitochondria.
… are the site of the cell’s energy production and other metabolic functions. Offspring inherit mitochondria — and as …
Fact Sheets
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
… uncovering new behavioral, neurological and developmental pathways and genes that are shared or related among species. … of dogs with sleep problems have revealed genes and pathways - and potential drug targets - to treat sleep …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.